2013
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nürnberg G, Altmüller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nürnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nature Genetics 2013, 45: 531-536. PMID: 23542698, PMCID: PMC3719402, DOI: 10.1038/ng.2590.Peer-Reviewed Original ResearchMeSH KeywordsAcute Kidney InjuryAtypical Hemolytic Uremic SyndromeChildChild, PreschoolDiacylglycerol KinaseExomeFemaleGenes, RecessiveHemolytic-Uremic SyndromeHumansImmunoenzyme TechniquesInfantMaleMolecular Sequence DataMutationRenal Insufficiency, ChronicThrombocytopeniaThrombotic MicroangiopathiesA 7-year-old boy with renal insufficiency and proteinuria after stem cell transplant for T-cell acute lymphoblastic leukemia
Goodwin JE, Palmer M, Pashankar F, Tufro A, Moeckel G. A 7-year-old boy with renal insufficiency and proteinuria after stem cell transplant for T-cell acute lymphoblastic leukemia. Clinical Nephrology 2013, 82: 205-210. PMID: 23391318, PMCID: PMC6990651, DOI: 10.5414/cn107767.Peer-Reviewed Original ResearchConceptsStem cell transplantHematopoietic stem cell transplantCell transplantRenal insufficiencyKidney biopsyPediatric patientsNephrotic syndromeExtensive foot process effacementAbnormal lymphocyte responsesT-cell acute lymphoblastic leukemiaChronic kidney diseaseChronic interstitial nephritisAcute lymphoblastic leukemiaPre-conditioning regimensFoot process effacementHost diseaseImmunosuppressive therapyRenal failureInterstitial nephritisLymphocyte responsesCommon sequelaeInterstitial infiltratesProphylactic medicationKidney diseaseLikely multifactorial
2002
An 11-year-old African-American girl with systemic lupus erythematosus and ANCA-negative renal vasculitis
Moeckel GW, Jabs K, Fogo AB. An 11-year-old African-American girl with systemic lupus erythematosus and ANCA-negative renal vasculitis. American Journal Of Kidney Diseases 2002, 39: 433-438. PMID: 11840389, DOI: 10.1053/ajkd.2002.30568.Peer-Reviewed Original Research